Often diagnosed in childhood or adolescence, RP is an inherited retinal disease causing progressive loss of night and peripheral vision. The condition often leads to legal and sometimes complete blindness.
About the Disease
Retinitis pigmentosa, also known as RP, refers to a group of inherited diseases causing retinal degeneration. The retina is a thin piece of tissue lining the back of the eye. Rod and cone photoreceptors in the retina convert light into electrical signals that the brain interprets as vision. People with RP experience a gradual decline in their vision, because photoreceptors degenerate.
Forms of RP and related diseases include Usher syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome, among others.
Symptoms depend on whether rods or cones are initially involved. In most forms of RP, rods are affected first. Because rods are concentrated in the outer portions of the retina and are activated by dim light, their degeneration affects peripheral and night vision. Vision becomes more constricted over time. If and when the disease progresses and cones become affected, visual acuity, color perception, and central vision are diminished.
Night blindness is one of the earliest and most frequent symptoms of RP. People with mainly cone degeneration, however, first experience decreased central vision and reduced ability to discriminate colors and perceive details.
RP is typically diagnosed in children, adolescents and young adults. It is a progressive disorder. The rate of progression and degree of visual loss varies from person to person. Many people with RP are legally blind by age 40, with a central visual field of less than 20 degrees in diameter.
An estimated 100,000 people in the U.S. have RP, mainly caused by mutations (variations) in a single gene inherited from one or both parents. The mutated gene gives the wrong instructions to photoreceptor cells, telling them to make an incorrect protein or too little or too much protein. (Cells need the proper amount of particular proteins in order to function properly.) Mutations in dozens of genes have been linked to RP.
Genetic mutations can be passed from parent to offspring through one of three genetic inheritance patterns — autosomal recessive, autosomal dominant, or X-linked.
In autosomal recessive RP, both parents carry one copy of the mutated gene and one normal copy, but have no symptoms themselves. They are therefore referred to as unaffected carriers. Each of their children has a 25 percent chance of being affected by inheriting a mutated copy from each parent. If the child inherits one mutated copy from one parent, they will be an unaffected carrier.
In autosomal dominant RP, usually one parent is affected and is the only parent with a mutated copy of the gene. A child has a 50 percent chance of being affected through the inheritance of the mutated copy from. The unaffected parent genetics doesn’t play a known role in the inheritance of the disease.
In X-linked RP, the mutated gene for the disease is located on the X chromosome. Females have two X chromosomes and can carry the disease gene on one of their X chromosomes. Because they have a healthy version of the gene on their other X chromosome, carrier females are less frequently affected by X-linked diseases. Males have only one X chromosome (paired with one Y chromosome) and are therefore genetically susceptible to X-linked diseases. Males with X-linked diseases pass their Y chromosome to their sons, and therefore will never pass an X-linked disease to their sons. Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who become carriers, and a 50 percent chance of passing the gene to their sons, who are then affected by the disease.
If a family member is diagnosed with RP, it is often advised that other members of the family also have an eye exam by a physician who is specially trained to detect and treat retinal degenerative disorders. Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing, and other related issues.
Living with the Disease
There are many services and accommodative and assistive resources available to people and families with RP. Visit the Foundation’s Living and Thriving pages to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.
More information on managing RP is in the Newly Diagnosed section of this Web site.
Genetic testing is available for RP. It helps assess the risk of passing the disorder from parent to offspring. It also helps with attaining an accurate diagnosis. A patient with an accurate diagnosis is in a better position to understand which emerging treatment approaches and clinical trials are most appropriate for them.
Research and Clinical Trials
The Foundation is supporting several promising avenues of research, including gene, stem-cell, and drug therapies.
For the latest research advances for RP, refer to the Foundation publication Retinitis Pigmentosa: Research Advances.
To learn about clinical trials underway for RP, visit www.ClinicalTrials.gov.
Jul 19, 2018 Press Releases
Bill Introduced in U.S. House Would Speed Up Cures for Blindness
Jan 9, 2018 The Foundation in the News
AN EMERGING, vision-restoring gene therapy for a devastating retinal disease is poised for Food and Drug Administration (FDA) approval. If it gets the regulatory nod, it will be the first gene therapy to receive FDA approval for the eye or an inherited condition.
Mar 12, 2019 Eye On the Cure Research News
ProQR, a developer of RNA therapies in the Netherlands, announced that the first clinical-trial participant has received its emerging treatment, which targets retinitis pigmentosa and Usher syndrome caused by mutations in exon 13 of the USH2A gene.
Feb 21, 2019 Eye On the Cure Research News
ReNeuron, a cellular therapy developer in the UK, has reported vision improvements in the treated eyes of the first three retinitis pigmentosa (RP) patients in the Phase II part of the Phase I/II clinical trial for its proprietary human retinal progenitor cells (hRPC). The Phase I portion of the trial, completed last year, primarily assessed safety in subjects with minimal remaining vision.
Feb 1, 2019 Retinal Disease Research Advances
Recent developments in research on retinitis pigmintosa.
Jan 29, 2019 Eye On the Cure Research News
Sofia Sees Hope, a nonprofit dedicated to finding treatments and cures for people with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), has made a $100,000 donation to the Foundation Fighting Blindness to support therapy development and genetic testing.
Jan 17, 2019 Eye On the Cure Research News
The French bioelectronics company Pixium Vision has reported that its PRIMA bionic vision system has restored some central vision in patients with advanced dry age-related macular degeneration (AMD) participating in a clinical feasibility trial.
Dec 4, 2018 Eye On the Cure Research News
ProQR, a biotech in the Netherlands developing therapies for rare diseases, has received authorization from the US Food and Drug Administration to launch a Phase I/II clinical trial for QR-421a, its treatment targeting mutations in exon 13 of the USH2A gene.
Nov 2, 2018 Eye On the Cure Research News
Since 1989 genetic researchers, many funded by the Foundation, have identified approximately 270 genes linked to IRDs. In most cases, defects in a single gene can cause a retinal disease and vision loss.
Sep 11, 2018 Eye On the Cure Research News
On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies.
Aug 22, 2018 Eye On the Cure Research News
The company is taking on a multi-track strategy that includes retinal gene-therapy development, including delivery of over-sized genes and design of a two-step process of gene knockdown and replacement for autosomal dominant conditions.
Aug 15, 2018 Eye On the Cure Research News
Each recipient will receive a total of $375,000 over five years to help build an independent research program in addition to their clinical practices.
Aug 6, 2018 Eye On the Cure Research News
Seventy scientists submitted requests for funding.
Jul 20, 2018 Eye On the Cure Research News
Call to Action: Ask Congress to Support $1 Billion in Eye Research
Jul 5, 2018 Eye On the Cure Research News
Many research groups from around the world are investigating ways to create new photoreceptors from stem cells for transplantation into the retina for vision restoration.
Jun 22, 2018 Eye On the Cure Research News
Watch recorded session from VISIONS2018.
May 30, 2018 Eye On the Cure Research News
Horama’s gene therapies are injections of healthy copies of a gene underneath the retina to compensate for the defective gene.
May 7, 2018 Eye On the Cure Research News
Dr. Henry Klassen, jCyte co-founder and investigator at UC Irvine, provides an update on the clinical trials for an RP therapy derived from stem cells.
May 3, 2018 Eye On the Cure Research News
ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases
May 2, 2018 Eye On the Cure Research News
FFB’s own Dr. Steve Rose, chief scientific officer, reviews our commitment to funding and exploring CRISPR/Cas9 gene editing for inherited retinal disease.
Apr 25, 2018 Eye On the Cure Research News
More than 11,000 eye researchers from around the world — including five intrepid members from FFB’s science team — will gather to participate in what is essentially a massive “show and tell” of the latest scientific advancements.
Apr 9, 2018 Eye On the Cure Research News
An FFB-funded study at Massachusetts Eye andEar Infirmary (MEEI) suggests that vitamin A palmitate supplementation may slow the decline of cone function by nearly 50 percent in children with retinitis pigmentosa (RP).
Feb 14, 2018 Eye On the Cure Research News
The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has entered into a partnership with ProQR to develop a retinal therapy for people with Usher syndrome type 2A (USH2A) caused by mutations in exon 13 of the USH2A gene.
Feb 7, 2018 Eye On the Cure Research News
Jan 17, 2018 Eye On the Cure Research News
The French biotech GenSight Biologics has received regulatory authorization in the UK to launch the PIONEER Phase 1 \ 2 clinical trial for its GS030 system — a light-sensing gene therapy (optogenetics) coupled with eyewear, which enhances visual stimulation.
Jan 9, 2018 Eye On the Cure Research News
An exciting year in fighting blindness.
Dec 21, 2017 Eye On the Cure Research News
Some participants reported increased light sensitivity, improved color vision, better mobility, and improved reading ability.
Dec 20, 2017 Eye On the Cure Research News
Known as LUXTURNA™ (voretigene neparvovec), the gene therapy restored vision in a clinical trial for people between the ages of 4 and 44 with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65.
Nov 21, 2017 Eye On the Cure Research News
If a clinic is charging for a stem-cell treatment or procedure for an IRD, it is probably not legit. The expense to the patient is a major red flag.
Oct 13, 2017 Eye On the Cure Research News
FDA Committee Unanimously Recommends Approval for Spark's RPE65 Gene Therapy - Final Decision Due in January 2018
An advisory committee comprised of FDA-selected experts voted unanimously – 16 to 0 – to recommend approval.
Sep 27, 2017 Eye On the Cure Research News
In addition to funding promising biotech start-ups, FFB has played a critical role in developing research talent.
Aug 30, 2017 Eye On the Cure Research News
The MeiraGTx gene therapy involves injection of healthy copies of RPGR underneath the retina. The RPGR copies are contained in a human-engineered virus — known as an adeno-associated virus or AAV — designed to readily penetrate retinal cells to deliver the therapeutic genetic cargo.
Jul 26, 2017 Eye On the Cure Research News
The high-tech, vision-restoring system interfaces with the visual cortex, the back of the brain where visual input is processed to create the images we see.
Jul 25, 2017 Eye On the Cure Research News
Foundation Fighting Blindness and 4D Molecular Therapeutics Partner to Boost Retinal Gene Therapy Development
The partnership will help companies and researchers quickly obtain and implement high-quality vectors for their retinal gene-therapy development efforts.
Jul 24, 2017 Eye On the Cure Research News
The Foundation Fighting Blindness has taken the translational challenge head on by investing more than $75 million in therapy-development projects with strong clinical-trial potential through its Translational Research Acceleration Program (TRAP), which includes Gund-Harrington Scholar Awards.
Jul 12, 2017 Eye On the Cure Research News
SparingVision received a €300,000 award known as the Honor Prize from the French Ministry of Research. The award is given to new, innovative companies in France competing in a national contest.
Jun 29, 2017 Eye On the Cure Research News
The discovery can help genetic experts diagnose more patients with adRP, and it gives researchers a target for developing potential therapies.
Jun 1, 2017 Eye On the Cure Research News
While a therapy for adRP will not emerge from the clinical trial, study investigators advanced development of a new outcome measure known as EZ Area to quickly and accurately evaluate potential therapies for RP in human studies.
May 23, 2017 Eye On the Cure Research News
In its fourth year, the meeting is becoming the world’s most comprehensive overview of the promising research underway for emerging IRD treatments.
May 8, 2017 Eye On the Cure Research News
How the Foundation Fighting Blindness (FFB) provided timely funding of $155,000 to help a lab at the University of California, San Diego (UCSD), leverage a $2 million retinal-gene discovery project.
Apr 28, 2017 Eye On the Cure Research News
Based on lab studies, researchers believe the treatment can preserve and potentially rescue the patient’s existing photoreceptors, thereby saving and possibly restoring vision.
Apr 4, 2017 Eye On the Cure Research News
The study — known as RUSH2A (“R” stands for “rate of progression”) — is beginning in spring 2017 and will take place at about 20 clinical sites around the world. RUSH2A investigators will use a variety of technologies to monitor changes in vision and retinal structure to document and analyze disease progression.
Mar 22, 2017 Eye On the Cure Research News
Dr. Berson dedicated himself to clinical care and vision-saving research for people with inherited retinal diseases for five decades.
Mar 20, 2017 Eye On the Cure Research News
The Nightstar gene therapy involves injection of healthy copies of RPGR underneath the retina.
Mar 16, 2017 Eye On the Cure Research News
“…participation in a study for an emerging therapy that is not regulated by the FDA or another well-recognized regulatory agency like the European Medicines Agency in Europe, is fraught with dangers and can lead to unexpected serious consequences.”
Feb 17, 2017 Eye On the Cure Research News
Jan 19, 2017 Eye On the Cure Research News
The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) has announced an investment of up to $7.5 million to advance the potential therapy into and through a Phase II clinical trial.
Dec 21, 2016 Eye On the Cure Research News
Improved outcome measures will make clinical trials for degenerative retinal diseases — including age-related macular degeneration (AMD), the world’s leading cause of blindness in seniors, and inherited retinal conditions such as RP and Stargardt disease — less expensive to conduct and able to deliver more precise results.
Dec 19, 2016 Eye On the Cure Research News
By changing the identity of cells in the retina–namely rods–researchers may someday be able to slow or halt vision loss for those with retinitis pigmentosa (RP) and other related conditions.
Oct 18, 2016 Eye On the Cure Research News
Understanding the pathways of the retinal neural network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.
Oct 11, 2016 Eye On the Cure Research News
Dr. Shinya Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD).
Oct 6, 2016 Eye On the Cure Research News
The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging.
Aug 18, 2016 Eye On the Cure Research News
RetroSense’s optogenetic therapy is designed to restore vision to people who are completely blind from retinal degenerative diseases such as retinitis pigmentosa by bestowing light sensitivity to retinal ganglion cells, which survive after photoreceptors, the cells that make vision possible, are lost.
Aug 9, 2013 Science Education
The Foundation Fighting Blindness is, of course, all about finding treatments and cures for retinal degenerative diseases. However, we are well aware that many of our constituents and their families are dealing with more than just vision loss. That’s because genetic defects causing retinal conditions can sometimes affect other parts of the body. The result is conditions often referred to as syndromes.
Feb 18, 2013 Eye On the Cure Research News
More good news about treatments and technological advances for restoring vision for people with retinal diseases.
Jun 19, 2012 Eye On the Cure Research News
How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment.
Jul 27, 2018 Beacons of Hope
A story about living with retinitis pigmentosa.
Dec 17, 2017 Beacons of Hope
“I try not to get my hopes up too much, but I never lose hope; I’m determined. I just want to see my son’s face, see him get married, & see my grandchildren. I encourage everyone with a retinal disease to get a genetic test & to never ever give up hope.“
Apr 15, 2015 Beacons of Hope
An interview with Louis Posen, record label founder and retinitis pigmentosa patient.
Jun 26, 2014 Beacons of Hope
Nicole Simpson, author of “Now I See You,” shares her experience with retinitis pigmentosa.
Sep 6, 2013 Beacons of Hope
His name is Battle. He’s an Arabian, stands more than 15 hands (or 5 feet) tall and weighs 1,000 pounds. He’s been with Alice Bartlett since his birth 26 years ago, and she’s been riding him since he was 2.
Alice, by the way, is legally blind.
May 24, 2013 Beacons of Hope
By Rich Shea
Mar 22, 2013 Beacons of Hope
Author Shawn Maloney describes his journey with RP.
Apr 12, 2012 Beacons of Hope
The parents of young children affected by retinal diseases walk a fine line – between making the best of a trying situation and preparing for the worst.
Mar 19, 2012 Beacons of Hope
When it comes to describing Eric Fulton, “gregarious” is a more-than-appropriate adjective for the husband and father of two who, fittingly, is also communications manager at the Bethesda-based Clark Construction Group. “It comes naturally to me,” he says of his ability to mix it up with people. “The cause makes it easier. But, otherwise, I’m pretty outgoing; I like to talk to people. It’s what I do.”